7DL2


Conserved Protein Domain Family
Tuberin

?
pfam03542: Tuberin (This model is not part of the current CDD release)
Tuberin
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder and is characterised by the presence of hamartomas in many organs, such as brain, skin, heart, lung, and kidney. It is caused by mutation either TSC1 or TSC2 tumour suppressor gene. The TSC2 gene codes for tuberin and interacts with hamartin pfam04388 , containing two coiled-coil regions, which have been shown to mediate binding to tuberin. These two proteins function within the same pathway(s) regulating cell cycle, cell growth, adhesion, and vesicular trafficking.
Statistics
?
PSSM-Id: 515652
Aligned: 14 rows
Threshold Bit Score: 434.86
Created: 13-Feb-2025
Updated: 28-Apr-2025
Structure
?
Program:
Drawing:
Aligned Rows:
PubMed ReferencesClick to see Conserved Features Help

Sequence Alignment
?
Format: Row Display: Color Bits: Type Selection:
7DL2_A        506 ASLEDVKTAVLGLLVILQTKLYTLPASHATRVYEMLVSHIQLHYKH---SYTLPiaSSIRLQAFDFLLLLRADSLHRLGL 582  human
XP_008197389  543 SDFLDVGVLVPGLVQVFARKIHKLPSSHAVLIYKIFVNFLERNLLKp--PFKEF--NQSRLMIFDCLLNMRADSYCRLGL 618 
3_pfamImport    1 SVLIAVATTVCGLKKIFLEKFHTPFASHSVAACQMFVELLEKYYEIsgfSDEPYvlWESRMDIFDSFFKIRTNSLFQARL 80  
Q61037        555 ASLEDVKTAVLGLLVILQTKLYTLPASHATRVYESLISHIQLHYKH---GYSLPiaSSIRLQAFDFLLLLRADSLHRLGL 631  house mouse
1_pfamImport    1 VDIKDIKTAVVGVIKILISKIYYLPSSHAIRAYKVLVNYLEQHYKEp-tVFYDI--PTIRYLIFECFLKIRANTLYHLGF 77  
XP_002061906  586 LDIADIIAAVDGLIEVFGIKLHRLPATHAIKIFNILMDHLELHYDRp-kIFEQA--STVRYKIFAWMLKARANGSYHIGY 662 
EDX11177      566 SEISDIIAAVDGLVKVFAIKLHRLPAIHALKIFNILMDHMELHYERp-kIFEHI--SVVRYKIFAWLLKARANGSYHIGY 642 
2_pfamImport    1 NDVADIQTTVEGLSKLFSKFLYKYPTTSADTILTLLITHLRHHYERp-iILEHI--CSIRLVIFDLLVKLRADSRYKLGM 77  
EDO48432      497 NVLKDVKTAINGLVQVLKVKLFRLPHCHAQQVFGLLVSHVRAHYYH---GYGTIiaSIIRNIAFECFLSLRCDSSQCLGF 573 
XP_056722512  556 ASLEDVKTAMLGLLVIFQTKLYGLPASHPTRVYEMLVLHIQLHYKH---KYSLPiaSSIRLQVFDFLLLLRADSLHRLGL 632  tarantolino
7DL2_A        583 PNK----DGVVRFSPYCVCDYMEPERgseKkts---gpLSPPTGPPG------PAPAgpaVRLGSVPYSLLFRVLLQCLK 649  human
XP_008197389  619 PDPd---TKQMKYSPYLCVSYKPNEP---Iv-------TSPPTTSPS------QTPV---CKVTFLAIESAFKLLLNYLE 676 
3_pfamImport   81 SHVr-------CFSPNIICHISEQGS---Vq------------------------NN---TEPVYLPFQRIIQACIQCLE 123 
Q61037        632 PNK----DGVVRFSPYCLCDCMELDR---AsekkasgpLSPPTGPPSpv---pMGPA---VRLGYLPYSLLFRVLLQCLK 698  house mouse
1_pfamImport   78 PDTq--nLSVIKFSPYLILEHTTTER---Insg--gggNSPPPVNPApl----qHLS---CQITYMSLALACKAVISCIK 143 
XP_002061906  663 PDAa--nNDALKFSHYLGIDSP-------------------------------LPPQ---SQTTTISIRRCCKLIIRSLD 706 
EDX11177      643 PEGs---NEVVKFSPYLGIDSP-------------------------------LLPQ---AHPTAISIRRVCKLIVRCLE 685 
2_pfamImport   78 QGVn-------EYSPYMYVDHRgl-------------gVPPSPNSLTedtkskDKIL---VQFNYMCLAAACKAVITALK 134 
EDO48432      574 ASSeaseKGKVTYSSYFVCAQSAREA---Pdst---lgYTSPSTLEApd--stLGYT---SPLGVIQYSDAFSVILSCIQ 642 
XP_056722512  633 ATK----DGLVRFSPYCLCDFV--EL---Ekkp--agaLSPPAGSPSlp---pPSTA---LRVGHLPFSLLFGVILQCLK 695  tarantolino
7DL2_A        650 QESDWKVLKLVLGRLPESLRYKVLIFTSPc-S--VDQLCSALCSM--LSGPKTLer--lrGAPEGFSRTDLHLAVVPVLT 722  human
XP_008197389  677 NEKDWEILKLVMEKLPKMLGNKAIVLTKSgnPd-LNNLVDVLCTM--LQNRSLN------LSEVKVTRLEFQTAVVSVMV 747 
3_pfamImport  124 HENYWPILQTVLDNICVLLENKHITVCLSl-Ed-IDTLIEVLSNF--VSSTNRIat--lkSKPEGFKRADLQLISLNVLT 197 
Q61037        699 QESDWKVLKLVLSRLPESLRYKVLIFTSPc-S--VDQLSSALCSM--LSAPKTLer--lrGTPEGFSRTDLHLAVVPVLT 771  house mouse
1_pfamImport  144 LEKDWKVLQLVLKELPQVMQNRALILSRHt-Nd-IDYFANALCSM--VSDKSLRlpeslyNVPPKFTLSEFRVHVFPVLA 219 
XP_002061906  707 HDNDYQVFLLVIKELPKILHNKALIQg----Nd-IEELANTLFKInsYSNNKFK-----------RPTDEFHALVLPAIA 770 
EDX11177      686 HDTDYQVFQLVIRELPKVLQNKALVQg----Nd-IEELANTLLKInlVSNNKFK-----------RPTDEFHALVLPAIA 749 
2_pfamImport  135 EELDWRVLNKILKDVPQILKNKALVLSGNweFdpAYELASTLCQL--VNDKTVAst--lkNTPPKWLKTDFQIAVYPALA 210 
EDO48432      643 YEWDWTVLEQVLTSLPDVLQNKTLVLAAD--Pn-LTAMSSVLCKM--VCDPACVld--lqRMPQGVGRTGLHALIFPVLT 715 
XP_056722512  696 QETDWKVLKLVLNKLPESLQCKVLYLTSPc-S--VDQLSSALCSM--LTDKKMAer--lrGTPEGFSRNDLHLAVVPVLT 768  tarantolino
7DL2_A        723 ALISYHNYLDKTKQREMVYCL--EQGLIHRCASQCVVALSICSVEMP-DIIIKALPVLVVKLTHISATASMAVPLLEFLS 799  human
XP_008197389  748 ALSSYGNSLDQYHQQLLINTLtrSTGTDPRCSRQSINSLTICMVDMR-ETMMKLLPDVLLRLSKISATKYIAMPVLEFLS 826 
3_pfamImport  198 QLTTFYNKIDTSRQRQILRCL--YSGLTTKCAKHCLSAITLCMIEMRaDATIRVLPSILLHLSHMSATVHLATAVLELLS 275 
Q61037        772 ALISYHNYLDKTRQREMVYCL--EQGLIYRCASQCVVALAICSVEMP-DIIIKALPVLVVKLTHISATASMAIPLLEFLS 848  house mouse
1_pfamImport  220 SLASYHAHLEPNLQQRLIKCL--EVGLTAKCASQCVTSLTTCILEMR-DAMNKLLSEVLLNLSKISATVHIAIPILEFLS 296 
XP_002061906  771 SLVIYHECLQSTQHNTIISVL--NSYILTGNASMCINTMTILILETP-EALMRQLPDVLLQMSKMSDTTTVAIPVLEFLS 847 
EDX11177      750 SLVIYHESLQPQQHYGIITAL--NSRVLTGIASVCINTMTILILEMP-EALMRKLPDVLLQMSKMSDTNALATPVLEFLS 826 
2_pfamImport  211 AFVSYHNSLEPPLQQKLVKCL--QSGLVNRCITPVVMALTTCILEMR-DVMVKLLPEVLLNMSKLSATTQIAVPILEFLS 287 
EDO48432      716 VLATYHTRLDRQHQCELVQSL--ELGFGTKCASLCVSSLTLCTMEMQ-AVITSLLPAILVRLSQVSATVLMAVPMLEFLS 792 
XP_056722512  769 ALISYHSYLDKAKQREMVYCL--EHGLIFRCANQCVVALSICSVEMP-DVLIKALPVLIVKLTHISATANMAIPLLEFLS 845  tarantolino
7DL2_A        800 TLA--RLPH-LYRNFAAEQYASV------------FAISLPYTNPSKFNQYIVCLAHHVIAMWFIRCRLP 854  human
XP_008197389  827 TLS--QLPN-VYANFVGDQYMAV------------FAIALPYTNPFKYDNYIVSLAYHVISVWFLKCRLP 881 
3_pfamImport  276 TLS--QLSH-LYSDFVEDQYLTV------------FAITLQHANPVKFSLYVVSLAHNIVSMWFVKCRPS 330 
Q61037        849 TLA--RLPH-LYRNFVPEQYASV------------FAISLPYTNPSKFNQYIVCLAHHVIAMWFIRCRLP 903  house mouse
1_pfamImport  297 TLT--RLPK-VFASFIGDQYMSV------------FAILLPYTNPFKYDHYTVSLAHHVIAVWFLKCRLP 351 
XP_002061906  848 LLI--HLSNhLFTNFTPKQNMYV------------FAITLPYTKPHRYDHYTVSLAHHVIAGWFLKCKLE 903 
EDX11177      827 LLI--HLSKhLFANFTSMHNMYV------------FAITLPYTKPHRYDHYTVSLAHHVIAGWFLKCKLE 882 
2_pfamImport  288 MLS--RLPK-VFSNFVADQYMAV------------FAITLPYTNPFKYNHYTVSLAHRVIAIWFLKCRTS 342 
EDO48432      793 GLV--HLPH-LYTSFKETQYKSV------------FAICLPYTDSARYSQYTVTLAFHVIAAWFVRARVA 847 
XP_056722512  846 --TlaRLPh-LYRNFAAEQYASVfaislpytnpskF------------NQYIVCLAHHVIAVWFIKCRLP 900  tarantolino
| Disclaimer | Privacy statement | Accessibility |
NCBI Home NCBI Search NCBI SiteMap